Variant report

Variant	rs17660235
Chromosome Location	chr12:29578725-29578726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11829418	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11829966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1436312	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17660557	0.91[EUR][1000 genomes]
rs73276818	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276822	1.00[EUR][1000 genomes]
rs73276826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278767	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73278768	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv525100	chr12:29576517-29585955	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29571000-29583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29578000-29583200	Enhancers	Hela-S3	cervix
3	chr12:29578200-29580000	Enhancers	HUVEC	blood vessel
4	chr12:29578400-29579000	Enhancers	HMEC	breast
5	chr12:29578400-29579200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:29578400-29579200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:29578400-29579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:29578600-29579000	Enhancers	NHEK	skin
9	chr12:29578600-29579600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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